Hypercholesterolemia Familial Idiopathic

Familial idiopathic hypercholesterolemia: understanding and treatment

Familial idiopathic hypercholesterolemia (FHI) is an inherited disease characterized by high levels of cholesterol in the blood. It belongs to a group of genetic disorders of lipid metabolism that lead to an increased risk of developing cardiovascular diseases, including atherosclerosis and coronary heart disease.

GSI is based on a violation of the metabolism of low-density lipoproteins (LDL), which is often called “bad” cholesterol. Normally, LDL transports cholesterol from the liver to various tissues of the body, but in GSI this process is disrupted due to defects in the genes responsible for the synthesis or metabolism of LDL. As a result, LDL accumulates in the blood, leading to hypercholesterolemia.

GSI is inherited in an autosomal dominant manner, which means that the presence of just one mutation in the gene may be sufficient to cause the disease. However, there are different genes responsible for GSI, and each of them can manifest itself with its own characteristics and clinical severity.

One of the main characteristics of GSI is the early onset of atherosclerosis, which can lead to serious complications such as myocardial infarction and stroke already at a young age. People with GSI also have an increased risk of developing xanthomas, fatty deposits in various tissues, especially tendons and skin.

Diagnosis of GSI includes analysis of cholesterol and other lipids in the blood, as well as genetic testing to identify mutations in genes associated with the disease. Early detection and confirmation of diagnosis allows timely treatment to begin and the development of cardiovascular complications to be prevented.

The main goal of treatment for GSI is to lower blood cholesterol levels to reduce the risk of cardiovascular complications. Combinations of lifestyle changes and pharmacological therapy are usually used. Recommendations for lifestyle changes include eating a balanced diet that limits saturated fat and cholesterol, moderate physical activity, quitting smoking, and controlling weight. If lifestyle changes are insufficient, medications such as statins, niacin, fibrates and cholesterol absorption inhibitors are prescribed. The goal of pharmacological therapy is to lower LDL levels and increase high-density lipoprotein (HDL) levels, which are considered “good” cholesterol.

In addition to treatment, it is also important to regularly monitor blood cholesterol levels and control other risk factors for cardiovascular disease, such as hypertension and diabetes. Patients with GSI should also pay attention to their family history of heart disease and be regularly screened for possible complications.

In conclusion, familial idiopathic hypercholesterolemia is an inherited disorder of lipid metabolism that leads to high blood cholesterol levels and an increased risk of developing cardiovascular disease. Early detection and timely treatment play an important role in reducing the risk of complications. Patients are advised to maintain a healthy lifestyle, including a balanced diet, physical activity and avoidance of bad habits, as well as to use pharmacological therapy under the supervision of a physician. Regular monitoring and control of other risk factors are also important components of care for patients with GSI.

Hypercholesterolemia is a disease in which the levels of lipids in the blood exceed the normal range. Accordingly, the level of cholesterol in the blood plasma and the risk of developing atherosclerosis increases.

One option is familial hypercholesterolemia. In most cases, it is hereditary and develops in children and adults